|Year : 2015 | Volume
| Issue : 2 | Page : 108-110
Porphyria Cutanea Tarda: A rare metabolic condition in India
BS Roopa1, R Gurumoorthi2, Ponnusankar Sivasankaran1
1 Department of Pharmacy Practice, Jagadguru Sri Shivarathreeswara College of Pharmacy, Ootacamund, Tamil Nadu, Jagadguru Sri Shivarathreeswara University, Mysore, Karnataka, India
2 Dermatologist, Govt. District Head Quarters Hospital, Ootacamund, Tamil Nadu, India
|Date of Web Publication||10-Apr-2015|
Professor and Head, Department of Pharmacy Practice, Jagadguru Sri Shivarathreeswara College of Pharmacy, Udhagamandalam 643 001, Tamil Nadu, Jagadguru Sri Shivarathreeswara University, Mysore - 570 015, Karnataka
Source of Support: None, Conflict of Interest: None
Porphyria cutanea tarda (PCT) is the most frequent type of porphyria worldwide and presents with skin symptoms only. Porphyrias are a group of eight panethnic inherited metabolic disorders of heme biosynthesis. Porphyria can affect peripheral, autonomic, and central nervous systems.In porphyria conditions there is accumulation of the hemeprecursor's 5-aminolaevulinic acid, porphobilinogen, and porphyrins; which are associated with characteristic clinical feature with acute neurovisceral attacks and skin lesions. Variegate porphyria, hereditary coproporphyria, and PCT share the same chronic cutaneous photosensitivity. Some drugs will also induce acute attack of porphyria. This report summarizes the management of PCT with a focus on the signs and symptoms and finding that might help and prevent unnecessary medications.
Keywords: Heme biosynthetic pathway and the porphyrias, porphyria cutaneous tarda, uroporphyrinogen decarboxylase
|How to cite this article:|
Roopa B S, Gurumoorthi R, Sivasankaran P. Porphyria Cutanea Tarda: A rare metabolic condition in India. Int J Health Allied Sci 2015;4:108-10
|How to cite this URL:|
Roopa B S, Gurumoorthi R, Sivasankaran P. Porphyria Cutanea Tarda: A rare metabolic condition in India. Int J Health Allied Sci [serial online] 2015 [cited 2020 Jul 13];4:108-10. Available from: http://www.ijhas.in/text.asp?2015/4/2/108/154911
| Introduction|| |
Porphyria cutanea tarda (PCT) is a rare disease caused by deficiency of enzyme uroporphyrinogen decarboxylase (UROD), fifth enzyme in heme biosynthetic pathway that leads to accumulation of uroporphyrinogen in the liver which is oxidized to porphyrins and cause damage to tissues. PCT is a relatively uncommon metabolic condition and lack of reporting in India makes it extremely difficult to ascertain the prevelance.  The PCT is the common type of porphyria, with a prevalence of approximately 1-2 per 100,000 people worldwide.  The PCT is mostly prevalent in male. PCT is shown only when the hepatic UROD decrease the 25% of threshold.  Majority of patients (80%) have sporadic or acquired deficiency of UROD (Type 1 PCT) in which the decrease in enzyme is restricted to liver, the remaining 20% of patients have familial UROD mutation (Type 2 PCT) in which there is decrease in the enzymatic activity at all tissues, an autosomal dominant condition with low penetrance.  When porphyrins are exposed to environmental condition like light with wavelength 400 nm, drugs such as nonsteroidal anti-inflammatory drugs, furosemide, antibiotics (e.g. tetracycline), and calorie restriction causes excitation of porphyrins resulting in release of reactive oxidizing species with damage to proteins, lipids, and basement membranes.  The most common photocutaneous manifestations of PCT on the sun-exposed areas are blisters, bullae, increased fragility, scarring, and hyper/hypo pigmentation.  The patients with PCT have risk of developing type 2 diabetes, cirrhosis, and hepatocellular carcinoma. , When the lesion starts resolving, it may cause hyper- or hypopigmented scars.  We report a case of patients with sporadic subtype PCT, which was successfully treated with chloroquine.
| Case report|| |
A37-year-old male patient with known history of PCT since childhood, without any family history of disease was presented with complaints of breathlessness along with photocutaneous manifestations of PCT after exposure to sunlight with increased mechanical fragility erosions and thickened skin blisters with painful indolent sores as shown [Figure 1],[Figure 2] and [Figure 3] and hypertrichosis on face. The patient is abstainer from alcohol and smoking. The patient has no drug allergies and not taking any medications. Patient's serum showed a red fluorescence to ultraviolet light and excretion of discolored urine-like port wine or tea was seen due to the presence of porphyrin pigments. The vital parameters of the patient were normal. On the day of admission, patient was prescribed with tablet chloroquine 250 mg twice daily and liquid paraffin s.o.s to apply on the affected areas of skin. Laboratory investigations showed there was increase in polymorphs, platelets, and decrease in lymphocyte count [Table 1]. On the next day, the patient was prescribed with injection cefotaxime 1 g twice daily, for his infected lesions; injection ranitidine 50 mg/2 ml twice daily as gastro protective agent; tablet chloroquine 250 mg at night alternative days which accelerate the secretion of porphyrins and inhibit porphyrin synthesis by decreasing photosensitivity; zinc oxide cream as sun screen cream; povidone-iodine ointment as broad spectrum microbicide; tablet B complex (vitamin B 1 -2 mg; B 2 -2 mg; B 6 -0.5 mg; niacinamide-25 mg; and calcium-1mg) twice daily as vitamin supplement; and liquid paraffin s.o.s to apply on skin. The same regimen of treatment was continued till next 12 days. On the 14 th day, the patient experienced severe infected lesions and tablet amoxicillin 250 mg thrice daily was prescribed for 6 days and on 21 st day capsule doxycycline 100 mg twice daily was added to the existing prescription. On 24 th day, the patient complained of pain in the left eye and ophthalmologist recommended gentamicin sulfate 0.3% solution eye drop, one drop thrice daily. On 21 March 2014, the dose of tablet chloroquine 150 mg in the night only to be taken twice a week was prescribed. On next day; the patient's condition was fine; the skin blisters with indolent sores got healed with dyspigmentation, milia, and scarring on hands and legs; and the patient was discharged from the hospital with prescription of capsule doxycycline 100 mg twice daily for 5 days, tablet ranitidine 150 mg twice daily, tablet B complex once daily, tablet chloroquine 150 mg at night twice a week, and liquid paraffins s.o.s to apply on skin.
|Figure 1: Hyperpigmentation with blisters, ulceration, and erosions on legs|
Click here to view
|Figure 2: Scleroderma changes (atrophy) with scar on palm aspects of both the hands with hyperpigmentation|
Click here to view
|Figure 3: Scleroderma changes (atrophy) with scar on dorsum aspects of both the hands with hyperpigmentation|
Click here to view
| Discussion|| |
PCT is a heterogeneous disease and the susceptible factors include ethanol intake, smoking, hepatitis C virus (HCV) infection, hemochromatosis mutations, use of estrogens, human immunodeficiency virus (HIV) infection, and UROD mutation. Mechanism of HCV and alcohol abuse causing PCT is postulated as due to suppression of hepcidin expression leading to iron overload and increase in oxidative stress in the liver.  In PCT condition, large amount of porphyrins gets accumulated in liver over a period of few months only then the porphyrins can be detected in plasma or urine samples. 
PCT is a relatively rare disease in India. UROD activity is reduced in hepatocytes through inactivation of a normal enzyme in sporadic PCT.  According to literature survey, majority of patients diagnosed with sporadic PCT would have liver siderosis, increased body iron stores, and biochemical evidence of iron overload.  In PCT conditions, the mild liver disease is observed in 70% of cases.  In the present case, the liver enzymes are slightly elevated not indicating of any significant liver disease. The slight elevation of liver enzymes may be due to use of chloroquine because of mobilization of porphyrins.
Treatment options include repeated phlebotomy when iron is the major cofactor and 4-aminoquinolines, chloroquine 125 mg, or hydroxychloroquine 100 mg twice a week when phlebotomy is not tolerable or contraindicated.  In the present case, chloroquine 150 mg twice week for 6 months was prescribed in order to achieve complete remission. The serum ferritin levels were not measured and phlebotomy was not used as treatment option due to frequent visit to blood bank leads to low compliance rate and also cost incurred towards the treatment. Along with the medications, the patients were advised to use sun screen cream and full covered protective clothings to avoid sunlight exposure. In the present case the patient also reported ocular pain, as it is one of the manifestations in PCT  and treated accordingly.
| Learning point and take home message|| |
The diagnosis of PCT requires a comprehensive workup, other porphyrias, pseudoporphyrias, and photoaggravated bullous dermatoses may also have with clinical features that are indistinguishable from those of PCT. If failed to find enough biochemical confirmation of the diagnosis, it can lead to inappropriate treatment of non-PCT disorders. It is also important to early diagnose the condition as it can lead to further complications of causing liver siderosis requiring the PCT patients to be monitored regularly for their liver function tests. It is significant to know the precipitating factor for the better management of the patient's symptoms and to avoid any relapse of the condition.
| Acknowledgment|| |
The authors wish to thank JSS University, Mysore for providing necessary facilities to carry out our work at Govt. District Headquarters Hospital (GHQH), Ootacamund.
| References|| |
Dombeck TA, Satonik RC. The porphyrias. Emerg Med Clin North Am 2014;23:885-99.
Frank J, Poblete-Gutiérrez P. Porphyria cutanea tarda-when skin meets liver. Best Pract Res Clin Gastroenterol 2010;24:735-45.
Ventura P, Cappellini MD, Biolcati G, Guida CC, Rocchi E. Gruppo Italiano Porfiria (GrIP). A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias. Eur J Intern Med 2014;25:497-505.
González-Estrada A, Gomez-Morales LB, Gonzalez-Estrada A, García-Morillo JS. Sporadic porphyria cutanea tarda: Treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome. Eur J Intern Med 2014;25:76-7.
Sams H, Kiripolsky MG, Bhat L, Stricklin GP. Porphyria cutanea tarda, hepatitis C, alcoholism, and hemochromatosis: A case report and review of the literature. Cutis 2004;73:188-90.
Goldman L, Schafer AI (Eds). Goldman′s Cecil Medicine. 24 th
ed. Saunders; 2012. p. 1363-71.
Garey JR, Franklin KF, Brown DA, Harison LM, Metcalf KM, Kushner JP. Analysis of uroporphyrinogen decarboxylase complementary DNAs in sporadic porphyria cutanea tarda. Gastroenterol 1993;105:165-9.
Lundvall O, Weinfeld A, Lundin P. Iron storage in porphyria cutanea tarda. Acta Med Scand 1970;188:37-53.
Puy H, Gouya L, Deybach JC. Porphyrias. Lancet 2010;375:924-37.
[Figure 1], [Figure 2], [Figure 3]